Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Tumor suppressor candidate 3

Gene

TUSC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Magnesium transporter (PubMed:19717468). May be involved in N-glycosylation through its association with N-oligosaccharyl transferase (PubMed:24685145).2 Publications1 Publication

GO - Molecular functioni

  • magnesium ion transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • cognition Source: UniProtKB
  • magnesium ion transport Source: UniProtKB
  • protein N-linked glycosylation Source: UniProtKB
  • protein N-linked glycosylation via asparagine Source: UniProtKB
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104723-MONOMER.
ReactomeiR-HSA-446203. Asparagine N-linked glycosylation.
R-HSA-5223345. Miscellaneous transport and binding events.

Protein family/group databases

TCDBi1.A.76.1.2. the magnesium transporter1 (magt1) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor suppressor candidate 3
Alternative name(s):
Magnesium uptake/transporter TUSC3
Protein N33
Gene namesi
Name:TUSC3
Synonyms:N33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30242. TUSC3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini42 – 196LumenalSequence analysisAdd BLAST155
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Topological domaini218 – 221CytoplasmicSequence analysis4
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Topological domaini243 – 276LumenalSequence analysisAdd BLAST34
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Topological domaini298 – 312CytoplasmicSequence analysisAdd BLAST15
Transmembranei313 – 333HelicalSequence analysisAdd BLAST21
Topological domaini334 – 348LumenalSequence analysisAdd BLAST15

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: Reactome
  • integral component of plasma membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • oligosaccharyltransferase complex Source: HGNC
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 7 (MRT7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:611093

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi7991.
MalaCardsiTUSC3.
MIMi611093. phenotype.
OpenTargetsiENSG00000104723.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA128394537.

Polymorphism and mutation databases

BioMutaiTUSC3.
DMDMi6166601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 41Sequence analysisAdd BLAST41
ChainiPRO_000021530042 – 348Tumor suppressor candidate 3Add BLAST307

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi99 ↔ 102Redox-activeCombined sources1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ13454.
MaxQBiQ13454.
PaxDbiQ13454.
PeptideAtlasiQ13454.
PRIDEiQ13454.

PTM databases

iPTMnetiQ13454.
PhosphoSitePlusiQ13454.

Expressioni

Tissue specificityi

Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000104723.
CleanExiHS_TUSC3.
ExpressionAtlasiQ13454. baseline and differential.
GenevisibleiQ13454. HS.

Organism-specific databases

HPAiHPA049851.
HPA049974.

Interactioni

Subunit structurei

Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B.1 PublicationBy similarity

Protein-protein interaction databases

BioGridi113701. 22 interactors.
IntActiQ13454. 1 interactor.
MINTiMINT-1192091.
STRINGi9606.ENSP00000221167.

Structurei

Secondary structure

1348
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi44 – 62Combined sources19
Beta strandi64 – 67Combined sources4
Helixi70 – 76Combined sources7
Beta strandi84 – 91Combined sources8
Helixi95 – 97Combined sources3
Helixi100 – 118Combined sources19
Beta strandi126 – 132Combined sources7
Turni133 – 135Combined sources3
Helixi137 – 142Combined sources6
Beta strandi150 – 154Combined sources5
Beta strandi156 – 158Combined sources3
Helixi162 – 164Combined sources3
Helixi168 – 171Combined sources4
Helixi175 – 186Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4M8GX-ray2.00A/B44-194[»]
4M90X-ray1.60A44-194[»]
4M91X-ray1.10A44-194[»]
4M92X-ray1.60A44-194[»]
ProteinModelPortaliQ13454.
SMRiQ13454.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini59 – 187ThioredoxinAdd BLAST129

Sequence similaritiesi

Belongs to the OST3/OST6 family.Curated
Contains 1 thioredoxin domain.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2603. Eukaryota.
ENOG410XR1F. LUCA.
GeneTreeiENSGT00390000012030.
HOGENOMiHOG000231301.
HOVERGENiHBG002493.
InParanoidiQ13454.
KOiK12669.
OMAiDLIARSW.
OrthoDBiEOG091G0ERM.
PhylomeDBiQ13454.
TreeFamiTF314850.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR021149. OligosaccharylTrfase_OST3/OST6.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF04756. OST3_OST6. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13454-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA
60 70 80 90 100
EKVEQLMEWS SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS
110 120 130 140 150
VCRQANEEYQ ILANSWRYSS AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT
160 170 180 190 200
FMHFPPKGRP KRADTFDLQR IGFAAEQLAK WIADRTDVHI RVFRPPNYSG
210 220 230 240 250
TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF AMTSGQMWNH
260 270 280 290 300
IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE
310 320 330 340
AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSDLDFE
Length:348
Mass (Da):39,676
Last modified:November 1, 1996 - v1
Checksum:i16D97CB1E00C5190
GO
Isoform 2 (identifier: Q13454-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-348: DLDFE → FLIK

Show »
Length:347
Mass (Da):39,558
Checksum:i538641E36C51905D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04583665I → V.Corresponds to variant rs11545035dbSNPEnsembl.1
Natural variantiVAR_069369247M → V.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003776344 – 348DLDFE → FLIK in isoform 2. 2 Publications5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U42349 mRNA. Translation: AAB18374.1.
U42359
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18375.1.
U42360
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18376.1.
BT020002 mRNA. Translation: AAV38805.1.
AC010656 Genomic DNA. No translation available.
AC019292 Genomic DNA. No translation available.
AC091559 Genomic DNA. No translation available.
AC100850 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63837.1.
CH471080 Genomic DNA. Translation: EAW63839.1.
BC010370 mRNA. Translation: AAH10370.1.
CCDSiCCDS5993.1. [Q13454-2]
CCDS5994.1. [Q13454-1]
PIRiG02297.
RefSeqiNP_006756.2. NM_006765.3. [Q13454-1]
NP_839952.1. NM_178234.2. [Q13454-2]
UniGeneiHs.426324.
Hs.600825.

Genome annotation databases

EnsembliENST00000382020; ENSP00000371450; ENSG00000104723. [Q13454-2]
ENST00000503731; ENSP00000424544; ENSG00000104723. [Q13454-1]
GeneIDi7991.
KEGGihsa:7991.
UCSCiuc003wwt.4. human. [Q13454-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U42349 mRNA. Translation: AAB18374.1.
U42359
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18375.1.
U42360
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18376.1.
BT020002 mRNA. Translation: AAV38805.1.
AC010656 Genomic DNA. No translation available.
AC019292 Genomic DNA. No translation available.
AC091559 Genomic DNA. No translation available.
AC100850 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63837.1.
CH471080 Genomic DNA. Translation: EAW63839.1.
BC010370 mRNA. Translation: AAH10370.1.
CCDSiCCDS5993.1. [Q13454-2]
CCDS5994.1. [Q13454-1]
PIRiG02297.
RefSeqiNP_006756.2. NM_006765.3. [Q13454-1]
NP_839952.1. NM_178234.2. [Q13454-2]
UniGeneiHs.426324.
Hs.600825.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4M8GX-ray2.00A/B44-194[»]
4M90X-ray1.60A44-194[»]
4M91X-ray1.10A44-194[»]
4M92X-ray1.60A44-194[»]
ProteinModelPortaliQ13454.
SMRiQ13454.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113701. 22 interactors.
IntActiQ13454. 1 interactor.
MINTiMINT-1192091.
STRINGi9606.ENSP00000221167.

Protein family/group databases

TCDBi1.A.76.1.2. the magnesium transporter1 (magt1) family.

PTM databases

iPTMnetiQ13454.
PhosphoSitePlusiQ13454.

Polymorphism and mutation databases

BioMutaiTUSC3.
DMDMi6166601.

Proteomic databases

EPDiQ13454.
MaxQBiQ13454.
PaxDbiQ13454.
PeptideAtlasiQ13454.
PRIDEiQ13454.

Protocols and materials databases

DNASUi7991.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382020; ENSP00000371450; ENSG00000104723. [Q13454-2]
ENST00000503731; ENSP00000424544; ENSG00000104723. [Q13454-1]
GeneIDi7991.
KEGGihsa:7991.
UCSCiuc003wwt.4. human. [Q13454-1]

Organism-specific databases

CTDi7991.
DisGeNETi7991.
GeneCardsiTUSC3.
GeneReviewsiTUSC3.
HGNCiHGNC:30242. TUSC3.
HPAiHPA049851.
HPA049974.
MalaCardsiTUSC3.
MIMi601385. gene.
611093. phenotype.
neXtProtiNX_Q13454.
OpenTargetsiENSG00000104723.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA128394537.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2603. Eukaryota.
ENOG410XR1F. LUCA.
GeneTreeiENSGT00390000012030.
HOGENOMiHOG000231301.
HOVERGENiHBG002493.
InParanoidiQ13454.
KOiK12669.
OMAiDLIARSW.
OrthoDBiEOG091G0ERM.
PhylomeDBiQ13454.
TreeFamiTF314850.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104723-MONOMER.
ReactomeiR-HSA-446203. Asparagine N-linked glycosylation.
R-HSA-5223345. Miscellaneous transport and binding events.

Miscellaneous databases

ChiTaRSiTUSC3. human.
GeneWikiiTUSC3.
GenomeRNAii7991.
PROiQ13454.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104723.
CleanExiHS_TUSC3.
ExpressionAtlasiQ13454. baseline and differential.
GenevisibleiQ13454. HS.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR021149. OligosaccharylTrfase_OST3/OST6.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF04756. OST3_OST6. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTUSC3_HUMAN
AccessioniPrimary (citable) accession number: Q13454
Secondary accession number(s): A8MSM0
, D3DSP2, Q14911, Q14912, Q96FW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: November 2, 2016
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.